{"entity":{"id":"kdm6a","kind":"target","name":"KDM6A","aka":["lysine demethylase 6A","Lysine-specific demethylase 6A"],"tldr":"KDM6A (Lysine-specific demethylase 6A) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Prostate cancer, Pancreatic ductal adenocarcinoma and 5 more.","summary":"Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Olaparib, Venetoclax, BET Inhibitor and EZH2 Inhibitor. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.97). IntOGen calls it a driver in 45 cohorts (11 activating, 34 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637"},{"label":"UniProt O15550","url":"https://www.uniprot.org/uniprotkb/O15550/entry"},{"label":"NCBI Gene 7403","url":"https://www.ncbi.nlm.nih.gov/gene/7403"},{"label":"Ensembl ENSG00000147050","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147050"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","prostate","pancreatic","lung-cancer","esophageal","breast-cancer","hcc","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 34 cohorts; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Urinary Bladder Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM6A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15550","url":"https://www.uniprot.org/uniprotkb/O15550/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM6A","url":"https://civicdb.org/features/6054","note":"7 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia, Urinary Bladder Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000147050","url":"https://platform.opentargets.org/target/ENSG00000147050/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: gastric cancer 0.54, prostate cancer 0.62, urinary bladder cancer 0.76, neuroendocrine neoplasm 0.55, skin cancer 0.55, breast cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen KDM6A","url":"https://www.intogen.org/search?gene=KDM6A","note":"driver in 45 cohorts (Act 11, LoF 34); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:12637","ensembl":"ENSG00000147050","uniprot":"O15550","entrez":"7403","biology":"Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression. Location: Nucleus (UniProt). Locus Xp11.3 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.76 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 9 cohorts (BLADDER, BLCA)","Prostate cancer: Open Targets association 0.62 with prostate cancer (MONDO_0008315); IntOGen driver in 9 cohorts (PRAD, PROSTATE)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease; IntOGen driver in 4 cohorts (PAAD)","Lung cancer: Open Targets association 0.63 with lung cancer (MONDO_0008903)","Oesophageal cancer: IntOGen driver in 3 cohorts (ESCA, ESCC)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/kdm6a/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}]}}